The Neurometabolic diseases are generally genetic diseases with a structural or functional enzymatic, or transporter defect in cellular metabolism. These disorders cause accumulation of the primary substrate that may be toxic for CNS .At the other hand it may be result in deficiency of product and lead to neurologic or developmental symptoms.
Inborn errors of metabolism are individually uncommon but important diseases and many of them have neurologic manifestations. Enzyme replacement therapy , diet and some supplements may be effective in these cases.
Noticed in their incidence(15.7/100000 live birth) and difficulties in their diagnosis, confrontation with them is not possible for all physicians and medical students and for this reason some of disease keep unknown for mentioned group.
We try to instigate a site for registration of Neurometabolic cases with their history, signs and symptoms, lab tests and imaging's.
Only clinical and biochemical well-defined cases are registered .
This is a collaborate project of all pediatric neurology centers in Iran and the main reason for initiating it is the fact that ,in daily practice it is very difficult to find patients with metabolic diseases.
We want to have an estimate about prevalence and incidence of neurometabolic diseases in our country.For this goal we need to help and collaboration of our colleagues (Child neurologists)in all part of Iran.